Short Description

NGS genetic DNA test detecets for variant and mutation detection in CRB2 gene for Focal segmental glomerulosclerosis type 9

PreTest Information

Clinical History of Patient who is going for CRB2 Gene Focal segmental glomerulosclerosis type 9 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CRB2 Gene Focal segmental glomerulosclerosis type 9 NGS Genetic DNA Test gene CRB2

Detail Description

CRB2 Gene Focal Segmental Glomerulosclerosis Type 9 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Focal segmental glomerulosclerosis (FSGS) is a rare kidney disease that affects the glomeruli, the tiny blood vessels in the kidneys that filter waste from the blood. FSGS can be caused by a variety of genetic and environmental factors, including mutations in the CRB2 gene.

The CRB2 gene provides instructions for making a protein that is involved in the formation and maintenance of the glomerular filtration barrier, which helps prevent proteins from leaking out of the blood and into the urine. Mutations in the CRB2 gene can disrupt this barrier, leading to the development of FSGS.

Symptoms of FSGS

The symptoms of FSGS can vary depending on the severity of the disease. Some people may have no symptoms at all, while others may experience:

• Swelling in the legs, ankles, feet, or face
• Decreased urine output
• High blood pressure
• Proteinuria (excess protein in the urine)
• Hypoalbuminemia (low levels of albumin in the blood)

Diagnosis of FSGS

FSGS is typically diagnosed through a combination of medical history, physical examination, and laboratory tests. These tests may include:

• Urine tests to measure protein levels and detect other abnormalities
• Blood tests to measure kidney function and identify potential underlying causes of kidney disease
• Kidney biopsy to examine a small sample of kidney tissue under a microscope and look for signs of FSGS

NGS Genetic DNA Test for CRB2 Gene

Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations that may be causing FSGS. The NGS genetic DNA test for the CRB2 gene can help diagnose FSGS caused by mutations in this gene.

The test involves taking a small blood or saliva sample from the patient and analyzing it for mutations in the CRB2 gene using NGS technology. The test can identify both known and novel mutations in the gene and can be used to confirm a diagnosis of FSGS caused by CRB2 mutations.

Cost of NGS Genetic DNA Test for CRB2 Gene

The cost of the NGS genetic DNA test for the CRB2 gene can vary depending on the testing facility and location. In India, the test typically costs around INR 20,000.

Conclusion

FSGS is a rare kidney disease that can be caused by mutations in the CRB2 gene. Symptoms of FSGS can vary, and the disease is typically diagnosed through a combination of medical history, physical examination, and laboratory tests. The NGS genetic DNA test for the CRB2 gene can help diagnose FSGS caused by mutations in this gene, and the cost of the test in India is typically around INR 20,000.

If you suspect you may have FSGS or have a family history of the disease, it is important to speak with a healthcare provider about diagnosis and treatment options.